K43T (p.Lys43Thr) variant of EYA1 (Protein phosphatase EYA1)
K43T (p.Lys43Thr) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
K43T (p.Lys43Thr) variant details
- p.Lys43Thr
- rs1824212559
- ClinGen CA371469360
- ClinVar RCV003837882
- Ensembl rs1824212559
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.57
- MetaLR 0.40
- MetaSVM -0.44
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.29
- ClinVar: Uncertain significance (Melnick-Fraser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available